Associated Papers
PAnno: A pharmacogenomics annotation tool for clinical genomic testing.
Liu Y et al.
Frontiers in Pharmacology, 2023
36778023 (PubMed )
Supplement: Table2.XLSX › NUDT15
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
Dörre K et al.
Journal of Inherited Metabolic Disease, 2015
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